Canonical Allele Identifier: CA363492848
Gene: DXO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969881T>A , CM000668.2:g.31969881T>A GRCh38
NC_000006.11:g.31937658T>A , CM000668.1:g.31937658T>A GRCh37
NC_000006.10:g.32045637T>A NCBI36
NG_032652.1:g.16078T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.1187A>T MANE Select ENSP00000337759.5:p.Lys396Ile
ENST00000337523.9:c.1187A>T ENSP00000337759.5:p.Lys396Ile
ENST00000375349.7:c.1187A>T ENSP00000364498.3:p.Lys396Ile
ENST00000375356.7:c.1187A>T ENSP00000364505.3:p.Lys396Ile
ENST00000473976.1:n.1959A>T
ENST00000477826.5:n.2022A>T
ENST00000478221.5:n.1068A>T
ENST00000485557.5:n.1807A>T
ENST00000491327.5:n.1324A>T
ENST00000495340.5:c.520A>T
NM_005510.3:c.1187A>T NP_005501.2:p.Lys396Ile
XM_006715005.2:c.1187A>T XP_006715068.1:p.Lys396Ile
XM_006715007.2:c.635A>T XP_006715070.1:p.Lys212Ile
XR_926081.1:n.1660A>T
XR_926082.1:n.1687A>T
XM_006715005.3:c.1187A>T XP_006715068.1:p.Lys396Ile
XM_017010329.1:c.635A>T XP_016865818.1:p.Lys212Ile
XR_002956262.1:n.1419A>T
XR_002956263.1:n.1585A>T
XR_002956264.1:n.1485A>T
XR_926082.2:n.1427A>T
NM_005510.4:c.1187A>T MANE Select NP_005501.2:p.Lys396Ile
NM_001371205.1:c.635A>T NP_001358134.1:p.Lys212Ile
NM_001371206.1:c.635A>T NP_001358135.1:p.Lys212Ile